TAY-SACHS disease (infantile amaurotic idiocy) is a neuronal storage disease inherited as a simple mendelian recessive trait and characterized by progressive mental deterioration and blindness. Large quantities of a ganglioside, a neuraminic acid containing macromolecular glycolipid, are stored in almost all cells of the central nervous system (CNS). Electronmicroscopic examination of involved neurons indicates that the lipid is arranged in concentric lamellae, termed membranous cytoplasmic bodies by Terry and Weiss.1 The lipid is also encountered in reactive astrocytes, in endothelial cells, and in pericytes, which are often present in large numbers in Tay-Sachs disease, and which may act as macrophages to remove lipid debris from ruptured neurons.1 Ganglioside-laden macrophages have also been seen to surround cerebral blood vessels and may be found in the leptomeninges.
Cells from patient afflicted with various neuronal storage diseases have recently been grown in vitro, and the abnormally stored material has been
Batzdorf U, Sarlieve LL, Gold VA, Menkes JH. Tay-Sachs Disease: Demonstration of the Stored Ganglioside in Cultured Cells From Brain Biopsy. Arch Neurol. 1969;20(6):650–652. doi:10.1001/archneur.1969.00480120096009
Monkeypox Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.